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Wyszukujesz frazę ""Chromosome Aberrations"" wg kryterium: Temat


Tytuł :
Identification of genomic imbalances (CNVs as well as LOH) in sertoli cell only syndrome cases through cytoscan microarray.
Autorzy :
Sharma A; Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India.
Jain M; Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: .
Halder A; Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India.
Kaushal S; Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
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Źródło :
Gene [Gene] 2021 Oct 30; Vol. 801, pp. 145851. Date of Electronic Publication: 2021 Jul 16.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Loss of Heterozygosity*
Sex Chromosome Aberrations*
Sertoli Cell-Only Syndrome/*genetics
Anti-Mullerian Hormone/blood ; Azoospermia/genetics ; Case-Control Studies ; Cytogenetic Analysis/methods ; Humans ; In Situ Hybridization, Fluorescence ; Inhibin-beta Subunits/blood ; Male ; Testis/physiology
Czasopismo naukowe
Tytuł :
In vitro evaluation of chromosomal damage and DNA strand breaks after treatment with the poppy seed alkaloid thebaine.
Autorzy :
Reimann H; Institute of Pharmacology and Toxicology, Julius Maximilians University of Würzburg, Versbacher Strasse 9, 97078, Würzburg, Germany. Electronic address: .
Bankoglu EE; Institute of Pharmacology and Toxicology, Julius Maximilians University of Würzburg, Versbacher Strasse 9, 97078, Würzburg, Germany. Electronic address: .
Stopper H; Institute of Pharmacology and Toxicology, Julius Maximilians University of Würzburg, Versbacher Strasse 9, 97078, Würzburg, Germany. Electronic address: .
Hintzsche H; Institute of Pharmacology and Toxicology, Julius Maximilians University of Würzburg, Versbacher Strasse 9, 97078, Würzburg, Germany; Bavarian Health and Food Safety Authority, Eggenreuther Weg 43, 91058, Erlangen, Germany. Electronic address: .
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Źródło :
Mutation research. Genetic toxicology and environmental mutagenesis [Mutat Res Genet Toxicol Environ Mutagen] 2021 Oct-Nov; Vol. 870-871, pp. 503393. Date of Electronic Publication: 2021 Aug 19.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
DNA Breaks*
Papaver/*chemistry
Seeds/*chemistry
Thebaine/*toxicity
Activation, Metabolic/drug effects ; Cell Cycle/drug effects ; Cell Line ; Comet Assay ; Humans ; Micronucleus Tests ; Papaver/embryology
Czasopismo naukowe
Tytuł :
The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization.
Autorzy :
Santiago F; Laboratory of Circulating Biomarkers, Department of Pathology, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Avenida Professor Manuel de Abreu 444, 4° andar, Vila Isabel, Rio de Janeiro, 20551-030, Brazil.; Graduation Program of Medical Sciences (PGCM), Medical Sciences Faculty (FCM), Rio de Janeiro State University, Rio de Janeiro, Brazil.; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Silvestre RT; Laboratory of Circulating Biomarkers, Department of Pathology, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Avenida Professor Manuel de Abreu 444, 4° andar, Vila Isabel, Rio de Janeiro, 20551-030, Brazil.; Graduation Program of Medical Sciences (PGCM), Medical Sciences Faculty (FCM), Rio de Janeiro State University, Rio de Janeiro, Brazil.
Otero UB; Technical Area Environmental, Work and Cancer, Coordination of Prevention and Surveillance, National Cancer Institute José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil.
Tabalipa MM; Technical Area Environmental, Work and Cancer, Coordination of Prevention and Surveillance, National Cancer Institute José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil.
de Moura Ribeiro-Carvalho M; Laboratory of Circulating Biomarkers, Department of Pathology, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Avenida Professor Manuel de Abreu 444, 4° andar, Vila Isabel, Rio de Janeiro, 20551-030, Brazil.; Graduation Program of Medical Sciences (PGCM), Medical Sciences Faculty (FCM), Rio de Janeiro State University, Rio de Janeiro, Brazil.
Scherrer LR; Kennedy Faculties of Belo Horizonte, Minas Gerais, Brazil.
Al-Rikabi A; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Alves G; Laboratory of Circulating Biomarkers, Department of Pathology, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Avenida Professor Manuel de Abreu 444, 4° andar, Vila Isabel, Rio de Janeiro, 20551-030, Brazil. .; Graduation Program of Medical Sciences (PGCM), Medical Sciences Faculty (FCM), Rio de Janeiro State University, Rio de Janeiro, Brazil. .
Ornellas MH; Laboratory of Circulating Biomarkers, Department of Pathology, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Avenida Professor Manuel de Abreu 444, 4° andar, Vila Isabel, Rio de Janeiro, 20551-030, Brazil.; Graduation Program of Medical Sciences (PGCM), Medical Sciences Faculty (FCM), Rio de Janeiro State University, Rio de Janeiro, Brazil.
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Źródło :
International archives of occupational and environmental health [Int Arch Occup Environ Health] 2021 Oct; Vol. 94 (7), pp. 1567-1577. Date of Electronic Publication: 2021 Mar 28.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Gasoline*
Occupational Exposure*
DNA Repair/*genetics
Rad51 Recombinase/*genetics
Adult ; Ataxia Telangiectasia Mutated Proteins/genetics ; Brazil ; Checkpoint Kinase 2/genetics ; Cross-Sectional Studies ; Female ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Oil and Gas Industry ; Polymorphism, Genetic ; Young Adult
Czasopismo naukowe
Tytuł :
[Analysis of genetic abnormalities and clinical outcome of fetus with ultrasonic nonstructural abnormality].
Autorzy :
Huang HL; Fujian Maternity and Child Health Hospital, Fujian Maternity and Child Health Hospital Affiliated to Fujian Medical University, Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
Cai MY; Fujian Maternity and Child Health Hospital, Fujian Maternity and Child Health Hospital Affiliated to Fujian Medical University, Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
Lin N; Fujian Maternity and Child Health Hospital, Fujian Maternity and Child Health Hospital Affiliated to Fujian Medical University, Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
Wang Y; Fujian Maternity and Child Health Hospital, Fujian Maternity and Child Health Hospital Affiliated to Fujian Medical University, Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
Xu LP; Fujian Maternity and Child Health Hospital, Fujian Maternity and Child Health Hospital Affiliated to Fujian Medical University, Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
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Źródło :
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] [Zhonghua Yu Fang Yi Xue Za Zhi] 2021 Sep 06; Vol. 55 (9), pp. 1094-1099.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
DNA Copy Number Variations*
Ultrasonography, Prenatal*
Amniotic Fluid ; Female ; Humans ; Karyotyping ; Pregnancy ; Retrospective Studies
Czasopismo naukowe
Tytuł :
The Need for Greater Awareness of Sex Chromosome Variations.
Autorzy :
Torres E; Erin Torres works at the National Institute of Mental Health (NIMH) in Bethesda, MD. This work was supported by the Intramural Research Program of the NIMH (National Institutes of Health [NIH] Annual Report No. ZIAMH002949). Contact author: . The author has disclosed no potential conflicts of interest, financial or otherwise. The views expressed in this article do not necessarily represent those of the NIH, the Department of Health and Human Services, or the U.S. government.
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Źródło :
The American journal of nursing [Am J Nurs] 2021 Sep 01; Vol. 121 (9), pp. 11.
Typ publikacji :
Editorial
MeSH Terms :
Professional-Family Relations*
Sex Chromosome Aberrations*
Caregivers/*psychology
Genetic Counseling/*psychology
Awareness ; Child ; Humans ; Sex Chromosomes
Opinia redakcyjna
Tytuł :
A preliminary study using spinal MRI-based radiomics to predict high-risk cytogenetic abnormalities in multiple myeloma.
Autorzy :
Liu J; Department of Radiology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.
Wang C; Department of Radiology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.
Guo W; Department of Radiology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.
Zeng P; Department of Radiology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.
Liu Y; Department of Hematology, Lymphoma Research Center, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.
Lang N; Department of Radiology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.
Yuan H; Department of Radiology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China. .
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Źródło :
La Radiologia medica [Radiol Med] 2021 Sep; Vol. 126 (9), pp. 1226-1235. Date of Electronic Publication: 2021 Jun 22.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Magnetic Resonance Imaging*
Multiple Myeloma/*genetics
Spine/*diagnostic imaging
Aged ; Area Under Curve ; Female ; Humans ; Logistic Models ; Machine Learning ; Male ; Middle Aged ; Multiple Myeloma/diagnostic imaging ; Multiple Myeloma/pathology ; Predictive Value of Tests ; ROC Curve ; Retrospective Studies ; Spine/pathology
Czasopismo naukowe
Tytuł :
Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients.
Autorzy :
Ma J; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China.
Ai X; Department of Pathology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 288 Nanjing Road, Heping District, Tianjin, 300020, China.
Wang J; Department of Oncology, The Second Hospital of Tianjin Medical University, No.23 Pingjiang Road, Hexi District, Tianjin, 300211, China.
Xing L; Hematology Department of General Hospital, Tianjin Medical University, No.154 Anshan Road, Heping District, Tianjin, 300052, China.
Tian C; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China.
Yang H; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China.
Yu Y; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China.
Zhao H; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China.
Wang X; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China.
Zhao Z; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. .
Wang Y; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. .
Cao Z; Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. .
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Źródło :
Annals of hematology [Ann Hematol] 2021 Sep; Vol. 100 (9), pp. 2207-2214. Date of Electronic Publication: 2021 May 15.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Myelodysplastic Syndromes/*genetics
Adult ; Cytogenetic Analysis ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Male ; Middle Aged ; Multiplex Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening.
Autorzy :
Sagi-Dain L; Genetics Institute, Carmel Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. Electronic address: .
Singer A; Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.
Segel R; Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University School of Medicine, Jerusalem, Israel.
Berger R; Cytogenetic Maccabi Health Care, Tel Aviv, Israel.
Kanengisser-Pines B; Genetic Counseling Unit, Soroka Medical Center, Medical School for International Health at Ben Gurion University, Be'er Sheva, Israel.
Maya I; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło :
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2021 Sep; Vol. 225 (3), pp. 333.e1-333.e14. Date of Electronic Publication: 2021 May 27.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Microarray Analysis*
Noninvasive Prenatal Testing*
Heart Defects, Congenital/*complications
Female ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
Analytical and clinical performance of chromosomal microarrays compared with FISH panel and conventional karyotyping in patients with chronic lymphocytic leukemia.
Autorzy :
Tang Z; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Kanagal-Shamanna R; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Tang G; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Patel K; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Medeiros LJ; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Toruner GA; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States. Electronic address: .
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Źródło :
Leukemia research [Leuk Res] 2021 Sep; Vol. 108, pp. 106616. Date of Electronic Publication: 2021 May 13.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human/*genetics
Cytogenetics/*methods
In Situ Hybridization, Fluorescence/*methods
Karyotyping/*methods
Leukemia, Lymphocytic, Chronic, B-Cell/*diagnosis
Microarray Analysis/*methods
Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Male ; Middle Aged ; Prognosis ; Retrospective Studies
Czasopismo naukowe
Tytuł :
A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
Autorzy :
Bertini V; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Giuliani C; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Ferreri MI; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
Orsini A; Section Of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bonuccelli A; Section Of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Peroni D; Section Of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bonaglia C; Cytogenetics Laboratory, Scientific Institute, IRCSS Eugenio Medea, Bosisio Parini, Italy.
Valetto A; Cytogenetics Unit, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
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Źródło :
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2021 Sep; Vol. 34 (17), pp. 2918-2922. Date of Electronic Publication: 2019 Oct 01.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Pair 13*/genetics
Chromosomes ; Cytogenetic Analysis ; Female ; Genetic Markers ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
Teaching NeuroImage: Increasing SPECTations for Ictal SPECT in Epilepsy Surgical Evaluation.
Autorzy :
Nascimento FA; From the Departments of Neurology (F.A.N., C.J.C.) and Radiology (R.L.C., D.Z.C., J.A.S.), Massachusetts General Hospital, Harvard Medical School, Boston. .
Cochran RL; From the Departments of Neurology (F.A.N., C.J.C.) and Radiology (R.L.C., D.Z.C., J.A.S.), Massachusetts General Hospital, Harvard Medical School, Boston.
Chow DZ; From the Departments of Neurology (F.A.N., C.J.C.) and Radiology (R.L.C., D.Z.C., J.A.S.), Massachusetts General Hospital, Harvard Medical School, Boston.
Scott JA; From the Departments of Neurology (F.A.N., C.J.C.) and Radiology (R.L.C., D.Z.C., J.A.S.), Massachusetts General Hospital, Harvard Medical School, Boston.
Chu CJ; From the Departments of Neurology (F.A.N., C.J.C.) and Radiology (R.L.C., D.Z.C., J.A.S.), Massachusetts General Hospital, Harvard Medical School, Boston.
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Źródło :
Neurology [Neurology] 2021 Aug 10; Vol. 97 (6), pp. e647-e648. Date of Electronic Publication: 2021 Apr 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Aberrations*
Drug Resistant Epilepsy*/diagnostic imaging
Drug Resistant Epilepsy*/pathology
Drug Resistant Epilepsy*/physiopathology
Occipital Lobe*/diagnostic imaging
Occipital Lobe*/pathology
Tomography, Emission-Computed, Single-Photon/*methods
Adolescent ; Chromosomes, Human, Pair 19 ; Electroencephalography ; Humans ; Male ; Neuroimaging/methods ; Neurosurgical Procedures ; Preoperative Care
Czasopismo naukowe
Tytuł :
Targeted long-read sequencing identifies missing disease-causing variation.
Autorzy :
Miller DE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: .
Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Loucks H; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Fuerte EPA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Walsh T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Thies J; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Bennett JT; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Patterson K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Bonkowski ES; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Nelson Z; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Squire A; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Sikes M; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Beckman E; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Bennett RL; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Earl D; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Lee W; Department of Genetics and Development, Columbia University, New York, NY 10032, USA; Department of Ophthalmology, Columbia University, New York, NY 10032, USA.
Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
Perlman SJ; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.
Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA 98195, USA.
Hing AV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA 98195, USA.
Wenger TL; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Adam MP; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Lam C; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Chang I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Zou X; Program in Computational Biology & Bioinformatics, Duke University, Durham, NC 27710, USA.
Austin SL; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
Huggins E; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
Safi A; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
Iyengar AK; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA; University Program in Genetics and Genomics, Duke University; Durham, NC 27708, USA.
Reddy TE; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA.
Majoros WH; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA.
Allen AS; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA.
Crawford GE; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
Kishnani PS; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
King MC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Cherry T; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Bamshad MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Doherty D; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Developmental Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: .
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Corporate Authors :
University of Washington Center for Mendelian Genomics
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1436-1449. Date of Electronic Publication: 2021 Jul 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Genetic Predisposition to Disease*
Genome, Human*
Mutation*
Cytogenetic Analysis/*methods
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*genetics
DNA Copy Number Variations ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Karyotyping ; Male ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Optical genome mapping enables constitutional chromosomal aberration detection.
Autorzy :
Mantere T; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Radboud Institute of Medical Life Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, 90220 Oulu, Finland.
Neveling K; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Radboud Institute of Health Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Pebrel-Richard C; Department of Chromosomal and Molecular Genetics, University Hospital of Clermont-Ferrand, 63003 Clermont-Ferrand, France.
Benoist M; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
van der Zande G; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Kater-Baats E; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Baatout I; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
van Beek R; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Yammine T; Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France; Unit of Medical Genetics, Saint-Joseph University, 1107 2180 Beyrouth, Lebanon.
Oorsprong M; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Hsoumi F; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
Olde-Weghuis D; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Majdali W; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
Vermeulen S; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Pauper M; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Lebbar A; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
Stevens-Kroef M; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Sanlaville D; Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France; Department of Genetics, Hospices Civils de Lyon, 69677 Bron, France.
Dupont JM; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France; Université de Paris, Cochin Institute U1016, INSERM, 75014 Paris, France.
Smeets D; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Radboud Institute of Medical Life Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands. Electronic address: .
Schluth-Bolard C; Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France; Department of Genetics, Hospices Civils de Lyon, 69677 Bron, France.
El Khattabi L; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France; Université de Paris, Cochin Institute U1016, INSERM, 75014 Paris, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1409-1422. Date of Electronic Publication: 2021 Jul 07.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
DNA Copy Number Variations*
Genome, Human*
Chromosome Disorders/*diagnosis
Chromosome Mapping/*methods
Cytogenetic Analysis/*methods
Microarray Analysis/*methods
Chromosome Disorders/genetics ; Humans ; Karyotyping
Czasopismo naukowe
Tytuł :
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Autorzy :
Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Radboud Institute of Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland.
Vermeulen S; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Oorsprong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
van Beek R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Kater-Baats E; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Pauper M; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
van der Zande G; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Smeets D; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Weghuis DO; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Stevens-Kroef MJPL; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, 6532 GA Nijmegen, the Netherlands. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1423-1435. Date of Electronic Publication: 2021 Jul 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
DNA Copy Number Variations*
Genome, Human*
Chromosome Mapping/*methods
Cytogenetic Analysis/*methods
Hematologic Neoplasms/*diagnosis
Microarray Analysis/*methods
Hematologic Neoplasms/genetics ; Humans ; Karyotyping
Czasopismo naukowe
Tytuł :
Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast.
Autorzy :
Cremonini A; Anatomic Pathology Section, Department of Oncology, Bellaria Hospital, AUSL Bologna, Via Altura 3, 40139, Bologna, Italy.
Saragoni L; Pathology Unit, Morgagni-Pierantoni Hospital, Forlì, Italy.
Morandi L; Department of Biomedical and Neuromotor Sciences, Functional MR Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, 40139, Bologna, Italy.
Corradini AG; Anatomic Pathology Section 'M. Malpighi' Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139, Bologna, Italy.
Ravaioli C; Anatomic Pathology Section 'M. Malpighi' Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139, Bologna, Italy.
Di Oto E; Laboratory of Molecular Pathology and Anatomic Pathology, S. Orsola Clinical Hospital, Viale Ercolani 4/2, 40138, Bologna, Italy.
Limarzi F; Pathology Unit, Morgagni-Pierantoni Hospital, Forlì, Italy.
Sanchez AM; Multidisciplinary Breast Center - Dipartimento Scienze della Salute della donna e del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.
Cucchi MC; Unit of Breast Surgery, Department of Oncology, Bellaria Hospital, AUSL Bologna, 40139, Bologna, Italy.
Masetti R; Multidisciplinary Breast Center - Dipartimento Scienze della Salute della donna e del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.
Quinn C; Department of Histopathology, St. Vincent's University Hospital, Dublin, Ireland.; School of Medicine, University College Dublin, Dublin, Ireland.
Foschini MP; Anatomic Pathology Section, Department of Oncology, Bellaria Hospital, AUSL Bologna, Via Altura 3, 40139, Bologna, Italy. .; Anatomic Pathology Section 'M. Malpighi' Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139, Bologna, Italy. .
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Źródło :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 Aug; Vol. 479 (2), pp. 345-354. Date of Electronic Publication: 2021 Feb 03.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Chromosomes, Human, X*
DNA Copy Number Variations*
Gene Dosage*
Sex Chromosome Aberrations*
Biomarkers, Tumor/*genetics
Breast Neoplasms/*genetics
Carcinoma/*genetics
Receptors, Androgen/*genetics
Aged ; Aged, 80 and over ; Breast Neoplasms/pathology ; Carcinoma/pathology ; Cell Differentiation ; DNA Methylation ; Female ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Ireland ; Italy ; Middle Aged ; Monosomy ; Phenotype
Czasopismo naukowe
Tytuł :
A new assay capturing chromosome fusions shows a protection trade-off at telomeres and NHEJ vulnerability to low-density ionizing radiation.
Autorzy :
Pobiega S; Université de Paris and Université Paris-Saclay, Inserm, CEA IBFJ/iRCM, UMR Stabilité Génétique Cellules Souches et Radiations, 92265 Fontenay-au-Roses, France.
Alibert O; Université Paris-Saclay, CEA IBFJ/CNRGH, 91057 Evry, France.
Marcand S; Université de Paris and Université Paris-Saclay, Inserm, CEA IBFJ/iRCM, UMR Stabilité Génétique Cellules Souches et Radiations, 92265 Fontenay-au-Roses, France.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Jul 09; Vol. 49 (12), pp. 6817-6831.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Telomere*/metabolism
DNA End-Joining Repair/*radiation effects
Centromere ; Genetic Techniques ; Radiation, Ionizing ; Saccharomyces cerevisiae/genetics ; Telomere Homeostasis
Czasopismo naukowe
Tytuł :
Preimplantation genetic testing results of blastocysts from 12 non-Robertsonian translocation carriers with chromosome fusion and comparison with Robertsonian translocation carriers.
Autorzy :
Xie P; Hunan Normal University School of Medicine, Changsha, People's Republic of China; National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China.
Li Y; Hunan Normal University, Changsha, People's Republic of China.
Cheng D; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Hu L; National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Tan Y; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Luo K; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Gong F; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Lu G; National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Lin G; National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jul; Vol. 116 (1), pp. 174-180. Date of Electronic Publication: 2021 Mar 04.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Chromosomes, Human, Y*
Genetic Testing*
Preimplantation Diagnosis*
Translocation, Genetic*
Blastocyst/*pathology
Adult ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Predictive Value of Tests ; Pregnancy
Czasopismo naukowe
Tytuł :
Synergistic Effects of Chronic Restraint-Induced Stress and Low-Dose 56Fe-particle Irradiation on Induction of Chromosomal Aberrations in Trp53-Heterozygous Mice.
Autorzy :
Katsube T; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Wang B; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Tanaka K; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Ninomiya Y; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Hirakawa H; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Liu C; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Maruyama K; Center for Advanced Radiation Emergency Medicine, National Institutes for Quantum and Radiological Science and Technology, Chiba 263-8555, Japan.
Vares G; Okinawa Institute of Science and Technology Graduate University, Okinawa 904-0495, Japan.
Liu Q; Institute of Radiation Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300192, PR China.
Kito S; Center for Animal Research and Education, Nagoya University, Nagoya 464-8601, Japan.
Nakajima T; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Fujimori A; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Nenoi M; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
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Źródło :
Radiation research [Radiat Res] 2021 Jul 01; Vol. 196 (1), pp. 100-112.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Heterozygote*
Restraint, Physical*
Stress, Physiological*
Iron/*administration & dosage
Tumor Suppressor Protein p53/*genetics
Animals ; Dose-Response Relationship, Radiation ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Spleen/metabolism ; Spleen/pathology ; Spleen/radiation effects
Czasopismo naukowe
Tytuł :
Eosinophilic Vacuolated Tumor of the Kidney: A Review of Evolving Concepts in This Novel Subtype With Additional Insights From a Case With MTOR Mutation and Concomitant Chromosome 1 Loss.
Autorzy :
Kapur P; Departments/Centers of Pathology.; Urology.; Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
Gao M; Internal Medicine.; Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
Zhong H; Departments/Centers of Pathology.; Bioinformatics.
Rakheja D; Departments/Centers of Pathology.; Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
Cai Q; Departments/Centers of Pathology.
Pedrosa I; Radiology.; Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
Margulis V; Urology.; Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
Xu L; Population and Data Sciences.
Kinch L; Population and Data Sciences.
Brugarolas J; Internal Medicine.; Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX.
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Źródło :
Advances in anatomic pathology [Adv Anat Pathol] 2021 Jul 01; Vol. 28 (4), pp. 251-257.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Chromosome Aberrations*
Mutation*
Carcinoma, Renal Cell/*pathology
Chromosomes, Human, Pair 1/*genetics
Kidney Neoplasms/*pathology
TOR Serine-Threonine Kinases/*genetics
Biomarkers, Tumor ; Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/metabolism ; Chromosomes, Human, Pair 1/metabolism ; Humans ; Kidney/metabolism ; Kidney/pathology ; Kidney Neoplasms/genetics ; Kidney Neoplasms/metabolism ; Male ; Middle Aged ; TOR Serine-Threonine Kinases/metabolism
Czasopismo naukowe
Tytuł :
Molecular diagnosis of sex chromosome mosaics in fetal amniotic cells.
Autorzy :
Fan Z; Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital, Guangxi.
Weng X; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.
Pan Z; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.
Fan Q; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.
Long J; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.; Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, Guangxi.; Laboratory Animal Center, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, PR China.
Lin G; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.
Yang Q; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.
Sun L; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi.; Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, Guangxi.; Laboratory Animal Center, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, PR China.
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Źródło :
Medicine [Medicine (Baltimore)] 2021 Jun 25; Vol. 100 (25), pp. e26331.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Mosaicism*
Sex Chromosome Aberrations*
Karyotyping/*methods
Polymerase Chain Reaction/*methods
Prenatal Diagnosis/*methods
Amniocentesis ; Amniotic Fluid/cytology ; Cells, Cultured ; Feasibility Studies ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Primary Cell Culture
Czasopismo naukowe

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